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Glycogen storage disease type II / Lysosomal storage disease / Acid alpha-glucosidase / Newborn screening / Screening / Hypertrophic cardiomyopathy / Health / Rare diseases / Medicine


Microsoft Word - CRW Final Report- Screening for Pompe Disease 06042013_FinalEdits_CLEAN.docx
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Document Date: 2013-06-20 16:06:33

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File Size: 1,27 MB

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City

Amsterdam / /

Company

Public Health Systems / Pompe Disease Taiwan / Genzyme Corporation / American Public Health Laboratories / /

Continent

North America / Europe / /

Country

Taiwan / Netherlands / Austria / United States / Israel / /

Facility

Columbia University / Case Western University / Duke University / University of Washington / University of Massachusetts / University of Michigan / VU University Medical Center / The American College of Medical Genetics2 / /

IndustryTerm

treatment of late-onset Pompe disease / carrier status unknown / clinical management / Treatment of Pompe disease / therapy for infantile-onset Pompe disease / standardized protocols / /

MedicalCondition

Hypertrophic cardiomyopathy / early-onset disease / Newborn Screening Infantile-onset Pompe Disease / Lysosomal Storage Disorders / severe combined immunodeficiency disease / critical congential heart disease / cardiomegaly / classic and nonclassic infantile-onset Pompe disease / enzyme dysfunction / classic infantile-onset Pompe disease / majority experience muscle weakness / autosomal recessive disorder / INTRODUCTION Pompe Disease / MS / GAA enzyme deficiency / infantile-onset Pompe disease / Pompe disease / Etiology Pompe disease / profound and progressive hypotonia / cardiomyopathy / disease / respiratory failure / late-onset disease / infantile and late-onset disease / classic infantile-onset disease / late-onset Pompe disease / partial deficiency / FOR POMPE DISEASE / Wolff-Parkinson-White syndrome / infantile-onset disease / deficiency / only infantile-onset Pompe disease / NEWBORN SCREENING FOR POMPE DISEASE / /

MedicalTreatment

immunotherapy / mechanical ventilation / enzyme replacement therapy / /

Organization

VU University Medical Center / University of Washington / Columbia University / University of Massachusetts / Association of Public Health Laboratories / University of Michigan / Health and Human Services’ Advisory Committee on Heritable Disorders / Registry Board / Case Western University / United States Food and Drug Administration / Duke University / The American College / FDA LSD MS/MS NBS RhGAA RUSP Secretary’s Advisory Committee on Heritable Disorders / /

Person

Aaron Goldenberg / Scott Grosse / Stephanie Weinreich / Lisa A. Prosser / Anne Marie Comeau / Susan Tanksley / Nancy S. Green / K.K. Lam / Alex R. Kemper / /

Position

Advisors / Decision Analysis Task Leader / POMPE DISEASE Executive / MPH Public Health System Impact Task Leader / United States Secretary / Major / Chair / PhD Project Leader / /

ProvinceOrState

Texas / Michigan / Missouri / Massachusetts / /

Technology

alpha / antibodies / microfluidics / spectroscopy / genotype / /

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